Search Results - "Ardisia, Carmela"

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly by Foti, Miryam Rosa Stella, Tedesco, Maria Giovanna, Colavito, Davide, Rogaia, Daniela, Mencarelli, Amedea, Schippa, Monica, Gradassi, Cristina, Romani, Rita, Ardisia, Carmela, Prontera, Paolo

“…The etiology of neurodevelopmental disorders and epilepsy is very heterogeneous and partly still unknown, and the research of causative genes related to these…”
Get full text

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling by Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela

“…The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the…”
Get full text

Deletion 2p15–16.1 syndrome: Case report and review by Prontera, Paolo, Bernardini, Laura, Stangoni, Gabriela, Capalbo, Anna, Rogaia, Daniela, Romani, Rita, Ardisia, Carmela, Dallapiccola, Bruno, Donti, Emilio

“…We report on a 9‐year‐old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion…”
Get full text

2q31.2q32.3 deletion syndrome: Report of an adult patient by Prontera, Paolo, Bernardini, Laura, Stangoni, Gabriela, Capalbo, Anna, Rogaia, Daniela, Ardisia, Carmela, Novelli, Antonio, Dallapiccola, Bruno, Donti, Emilio

“…A 36‐year‐old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, “muscular build,” and hand/foot…”
Get full text

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother by Cavani, Simona, Prontera, Paolo, Grasso, Marina, Ardisia, Carmela, Malacarne, Michela, Gradassi, Cristina, Cecconi, Massimiliano, Mencarelli, Amedea, Donti, Emilio, Pierluigi, Mauro

Get full text

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma by De Falco, Luigia, Vitiello, Giuseppina, Savarese, Giovanni, Suero, Teresa, Ruggiero, Raffaella, Savarese, Pasquale, Ianniello, Monica, Petrillo, Nadia, Bruno, Mariasole, Legnante, Antonietta, Passaretti, Francesco Fioravanti, Ardisia, Carmela, Di Spiezio Sardo, Attilio, Fico, Antonio

“…Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In…”
Get full text

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) by Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

“…Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics…”
Get full text

Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study) by Grati, Francesca Romana, Bestetti, Ilaria, de Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

“…(Abstracted from Prenat Diagn 2022;42:1575–1586 Methods for diagnosis of genetic abnormalities have recently undergone substantial improvement. Noninvasive…”
Get full text

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia by Prontera, Paolo, Stangoni, Gabriela, Ardisia, Carmela, Rogaia, Daniela, Mencarelli, Amedea, Donti, Emilio

Get full text

Impact of Complete Kariotypic Remission (CKR) and Sokal Risk on Overall Survival in Chronic Myelogenous Leukemia (CML) Patients: A Monocentric Experience by Falchi, Lorenzo, Schippa, Monica, Luzi, Debora, Emili, Rita, Festuccia, Viola, Giugliano, Emilia, Ardisia, Carmela, Rauco, Annamaria, Pace, Roberta, Donti, Emilio, Liberati, Anna Marina

“…Introduction Progressive improvement has been observed in CKR and survival of CML patients (pts) in response to interferon (IFN)a-based regimens, or imatinib…”
Get full text

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma by De Falco, Luigia, Vitiello, Giuseppina, Savarese, Giovanni, Suero, Teresa, Ruggiero, Raffaella, Savarese, Pasquale, Ianniello, Monica, Petrillo, Nadia, Bruno, Mariasole, Legnante, Antonietta, Passaretti, Francesco Fioravanti, Ardisia, Carmela, Di Spiezio Sardo, Attilio, Fico, Antonio

“…Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal anomalies with high clinical sensitivity and specificity. In…”
Get full text

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling by Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela

Get full text

Deletion 2p15-16.1 syndrome: Case report and review by Prontera, Paolo, Bernardini, Laura, Stangoni, Gabriela, Capalbo, Anna, Rogaia, Daniela, Romani, Rita, Ardisia, Carmela, Dallapiccola, Bruno, Donti, Emilio

Get full text

Effect of IFN alpha therapy on secondary Ph1-positive clones by Donti, E, Ferrajoli, A, Donti, G V, Senatore, M, Ardisia, C, Saglio, G, Liberati, A M

Get more information

2q31.2q32.3 deletion syndrome: Report of an adult patient by Prontera, Paolo, Bernardini, Laura, Stangoni, Gabriela, Capalbo, Anna, Rogaia, Daniela, Ardisia, Carmela, Novelli, Antonio, Dallapiccola, Bruno, Donti, Emilio

Get full text

Expression of aphidicolin-induced fragile sites in lymphocytes of patients with breast cancer by Ardisia, C, Venti, G, Colozza, M A, Breschi, C, Porfirio, B, Davis, S, Tonato, M, Donti, E

“…The expression of fragile sites induced by aphidicolin (APC) was evaluated on metaphase chromosomes obtained from the peripheral blood lymphocytes of 26 women…”
Get more information

Trisomy 4 in acute nonlymphocytic leukemia. Report of two cases and review of the literature by Donti, E, Maccari, A, Tabilio, A, Ardisia, C, Campanari, N, Donti, G V

“…Two patients with M2 subtype of acute nonlymphocytic leukemia (ANLL) and trisomy 4 as a primary karyotype change are described. The abnormality was observed in…”
Get more information